Variant report

Variant	rs10180761
Chromosome Location	chr2:39722668-39722669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39720512..39723979-chr2:39726252..39731559,5	MCF-7	breast:
2	chr2:39722036..39725199-chr2:39726283..39729688,3	K562	blood:
3	chr2:39662742..39664801-chr2:39722486..39724234,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction
ENSG00000011566	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12475209	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12475793	1.00[CHD][hapmap]
rs17467001	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17473802	0.89[ASW][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35368235	0.81[AMR][1000 genomes]
rs72803106	0.84[AMR][1000 genomes]
rs734663	0.89[ASW][hapmap]
rs7594967	0.89[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10180761	CYP1B1	cis	parietal	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39697400-39724200	Weak transcription	Gastric	stomach
2	chr2:39702200-39726000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:39707400-39724200	Weak transcription	Fetal Brain Male	brain
4	chr2:39712400-39748600	Weak transcription	Aorta	Aorta
5	chr2:39720000-39724800	Enhancers	NHLF	lung
6	chr2:39720400-39726000	Weak transcription	Stomach Mucosa	stomach
7	chr2:39721200-39723800	Enhancers	GM12878-XiMat	blood
8	chr2:39721600-39723200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:39721600-39723400	Enhancers	Lung	lung
10	chr2:39721600-39723400	Enhancers	HSMMtube	muscle
11	chr2:39721600-39723800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:39721600-39724400	Enhancers	Fetal Heart	heart
13	chr2:39721800-39722800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:39721800-39724800	Enhancers	NH-A	brain
15	chr2:39721800-39724800	Enhancers	Osteobl	bone
16	chr2:39722000-39722800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr2:39722000-39722800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:39722000-39722800	Enhancers	Stomach Smooth Muscle	stomach
19	chr2:39722000-39723000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:39722000-39723000	Enhancers	Fetal Lung	lung
21	chr2:39722000-39723000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr2:39722000-39723000	Enhancers	HMEC	breast
23	chr2:39722000-39723200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:39722000-39723600	Enhancers	HSMM	muscle
25	chr2:39722200-39722800	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:39722200-39730600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:39722400-39722800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:39722400-39722800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr2:39722400-39722800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr2:39722400-39722800	Flanking Active TSS	NHDF-Ad	bronchial
31	chr2:39722400-39723200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:39722400-39724200	Weak transcription	Adipose Nuclei	Adipose
33	chr2:39722400-39724200	Weak transcription	Fetal Stomach	stomach
34	chr2:39722400-39724200	Weak transcription	HepG2	liver
35	chr2:39722400-39724400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:39722400-39725000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:39722400-39726000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:39722400-39726000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr2:39722400-39726000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:39722400-39726000	Weak transcription	Placenta	Placenta
41	chr2:39722400-39726000	Weak transcription	Pancreas	Pancrea
42	chr2:39722400-39726000	Weak transcription	Psoas Muscle	Psoas
43	chr2:39722400-39726000	Weak transcription	Right Atrium	heart
44	chr2:39722400-39726000	Weak transcription	Right Ventricle	heart
45	chr2:39722400-39726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:39722400-39726600	Weak transcription	Left Ventricle	heart
47	chr2:39722400-39726600	Weak transcription	Ovary	ovary
48	chr2:39722400-39727200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:39722400-39727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:39722400-39727400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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